title: Ossifying fibromyxoid tumor presenting EP400-PHF1 fusion gene.
abstract: Ossifying fibromyxoid tumor is a rare soft tissue tumor of borderline malignancy and uncertain differentiation. Recently, a novel fusion gene, EP400-PHF1, was discovered in ossifying fibromyxoid tumor; however, its relation to this type of tumor has been uncertain because the EP400-PHF1 fusion gene has been successfully detected in only 1 case. We present an ossifying fibromyxoid tumor case with the EP400-PHF1 fusion gene detected by reverse transcriptase polymerase chain reaction, along with compatible cytogenetic data showing a t(6;12)(p21;q24.3) translocation. Our results suggest that the EP400-PHF1 fusion gene is a reproducible finding in ossifying fibromyxoid tumor.
authors.affiliation: Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Endo
authors.forename: Kenichi
authors.initials: K
authors.lastname: Kohashi
authors.forename: Hidetaka
authors.initials: H
authors.lastname: Yamamoto
authors.forename: Takeaki
authors.initials: T
authors.lastname: Ishii
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Yoshida
authors.forename: Tomoya
authors.initials: T
authors.lastname: Matsunobu
authors.forename: Yukihide
authors.initials: Y
authors.lastname: Iwamoto
authors.forename: Yoshinao
authors.initials: Y
authors.lastname: Oda
mesh_terms: D000368:Aged; D001483:Base Sequence; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D020732:Cytogenetic Analysis; D004265:DNA Helicases / Q000235:genetics* / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D018572:Disease-Free Survival; D005260:Female; D018214:Fibroma, Ossifying / Q000235:genetics* / Q000473:pathology; D050939:Gene Fusion; D006225:Hand / Q000000981:diagnostic imaging*; D006801:Humans; D007150:Immunohistochemistry; D059785:Karyotype; D008969:Molecular Sequence Data; D063146:Polycomb-Group Proteins; D011859:Radiography; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D012983:Soft Tissue Neoplasms / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D014178:Translocation, Genetic
chemical_list: D004268:DNA-Binding Proteins; C112309:PHF1 protein, human; D063146:Polycomb-Group Proteins; D014157:Transcription Factors; D004265:DNA Helicases; C498558:EP400 protein, human
keywords: EP400; Fusion gene; Ossifying fibromyxoid tumor; PHF1; RT-PCR